ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.2329del (p.Trp777fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003448551 SCV004176010 likely pathogenic Charcot-Marie-Tooth disease type 4B2 2019-05-09 criteria provided, single submitter clinical testing Criteria applied: PVS1, PM2_SUP

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